References: A Childhood With Epidermolysis Bullosa
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Browse our free newslettersReferences for “Darwin’s Orphan: A Childhood With Epidermolysis Bullosa,” by Eli Cahan
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- Boat ea. Rare Diseases and Orphan Products: Accelerating Research and Development: Institute of Medicine; 2010 [Available from: http://www.nationalacademies.org/hmd/Reports/2010/Rare-Diseases-and-Orphan-Products-Accelerating-Research-and-Development.aspx.
- Howlader N NA, Krapcho M, Miller D, Bishop K, Altekruse SF, Kosary CL, Yu M, Ruhl J, Tatalovich Z, Mariotto A, Lewis DR, Chen HS, Feuer EJ, Cronin KA SEER Cancer Statistics Review, 1975-2013 [4/8/17]. Based on November 2015 SEER data submission, posted to the SEER web site, April 6.]. Available from: https://seer.cancer.gov/csr/1975_2013/.
- Inzucchi SE. Clinical practice. Diagnosis of diabetes. N Engl J Med. 2012;367(6):542-50.
- Mitchell SL. Advanced Dementia. N Engl J Med. 2015;373(13):1276-7.
- Ohman EM. CLINICAL PRACTICE. Chronic Stable Angina. N Engl J Med. 2016;374(12):1167-76.
- Hankey GJ. Stroke. Lancet. 2017;389(10069):641-54.
- Maartens G, Celum C, Lewin SR. HIV infection: epidemiology, pathogenesis, treatment, and prevention. Lancet. 2014;384(9939):258-71.
- White NJ, Pukrittayakamee S, Hien TT, Faiz MA, Mokuolu OA, Dondorp AM. Malaria. Lancet. 2014;383(9918):723-35.
- Wilson JDGaM. Heroin’s New Hometown. New York Times. 2014 5/4/2014.
- Delreal JA. The Bronx’s Quiet, Brutal War with Opioids. New York Times. 2017 10/12/17.
- Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ. The supportive care needs of parents with a child with a rare disease: results of an online survey. BMC Fam Pract. 2016;17:88.
- Dinulos JG, Zembowicz A. Case records of the Massachusetts General Hospital. Case 32-2008. A 10-year-old girl with recurrent oral lesions and cutaneous bullae. N Engl J Med. 2008;359(16):1718-24.
- Hon KL, Li JJ, Cheng BL, Luk DC, Murrell DF, Choi PC, et al. Age and etiology of childhood epidermolysis bullosa mortality. J Dermatolog Treat. 2015;26(2):178-82.
- Omary MB, Coulombe PA, McLean WH. Intermediate filament proteins and their associated diseases. N Engl J Med. 2004;351(20):2087-100.
- Shinkuma S. Dystrophic epidermolysis bullosa: a review. Clin Cosmet Investig Dermatol. 2015;8:275-84.
- Fanelli D, Costas R, Ioannidis JP. Meta-assessment of bias in science. Proc Natl Acad Sci U S A. 2017;114(14):3714-9.
- Turner EH, Matthews AM, Linardatos E, Tell RA, Rosenthal R. Selective publication of antidepressant trials and its influence on apparent efficacy. N Engl J Med. 2008;358(3):252-60.
- Ioannidis JP. Acknowledging and Overcoming Nonreproducibility in Basic and Preclinical Research. JAMA. 2017;317(10):1019-20.
- Ioannidis JP. Why most published research findings are false. PLoS Med. 2005;2(8):e124.
- Ioannidis JP, Fanelli D, Dunne DD, Goodman SN. Meta-research: Evaluation and Improvement of Research Methods and Practices. PLoS Biol. 2015;13(10):e1002264.
- Ioannidis JP. Why Most Clinical Research Is Not Useful. PLoS Med. 2016;13(6):e1002049.
- Spear BB, Heath-Chiozzi M, Huff J. Clinical application of pharmacogenetics. Trends Mol Med. 2001;7(5):201-4.
- Boycott KM, Dyment DA, Sawyer SL, Vanstone MR, Beaulieu CL. Identification of genes for childhood heritable diseases. Annu Rev Med. 2014;65:19-31.
- Tambuyzer E. Towards a framework for personalized healthcare: lessons learned from the field of rare diseases. Future Medicine. 2010;7(5):569-86.
- PHRMA. Rare Diseases: A Report on Orphan Drugs in the Pipeline 2013 [Available from: http://www.phrma.org/sites/default/files/pdf/Rare_Diseases_2013.pdf.
- Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008;371(9629):2039-41.
- Heemstra HE, van Weely S, Buller HA, Leufkens HG, de Vrueh RL. Translation of rare disease research into orphan drug development: disease matters. Drug Discov Today. 2009;14(23-24):1166-73.
- Haffner ME. Adopting orphan drugs–two dozen years of treating rare diseases. N Engl J Med. 2006;354(5):445-7.
- J Russell Teagarden TFU, Gigi Hirsch. Access and availability of orphan drugs in the United States: advances or cruel hoaxes? Expert Opinion On Orphan Drugs. 2014;2(11):1147-50.
- Boat TF. Improving health outcomes for children. J Pediatr. 2003;143(5):559-63.
- Lee TH. Zero Pain Is Not the Goal. JAMA. 2016;315(15):1575-7.
- Hayden J. Seldom Silent, Never Heard. Quincy, ME1981.
- Green J. Jack Klugman’s secret, lifesaving legacy. The Washington Post [Internet]. 2012. Available from: https://www.washingtonpost.com/news/wonk/wp/2012/12/25/jack-klugmans-secret-lifesaving-legacy/?utm_term=.c010fc3a15df.
- Haffner ME. History of Orphan Drug Regulation-United States and Beyond. Clin Pharmacol Ther. 2016;100(4):342-3.
- Haffner ME, Maher PD. The impact of the Orphan Drug Act on drug discovery. Expert Opin Drug Discov. 2006;1(6):521-4.
- Kesselheim AS. An empirical review of major legislation affecting drug development: past experiences, effects, and unintended consequences. Milbank Q. 2011;89(3):450-502.
- Meyers A. Orphan Drugs: A Global Crusade2016.
- Waxman HA, Green J. The Waxman report : how Congress really works. 1st trade ed. New York: Twelve; 2010. xv, 246 p. p.
- NORD. About Us [Available from: https://rarediseases.org/about/.
- DeBellis R. Interview with Ron DeBellis. In: Cahan E, editor. 2017.
- Ayme S, Schmidtke J. Networking for rare diseases: a necessity for Europe. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007;50(12):1477-83.
- Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis. 2013;8:22.
- Nicholl H, Tracey C, Begley T, King C, Lynch AM. Internet Use by Parents of Children With Rare Conditions: Findings From a Study on Parents’ Web Information Needs. J Med Internet Res. 2017;19(2):e51.
- Pauer F, Litzkendorf S, Gobel J, Storf H, Zeidler J, Graf von der Schulenburg JM. Rare Diseases on the Internet: An Assessment of the Quality of Online Information. J Med Internet Res. 2017;19(1):e23.
- Solomon A. Far from the tree : parents, children and the search for identity. 1st Scribner hardcover ed. New York: Scribner; 2012. ix, 962 p. p.
- Tavernise S. F.D.A. Approves Muscular Dystrophy Drug That Patients Lobbied For. The New York Times. September 19, 2016.
- Vallée J. Dallas Buyers Club. 2013.
- Yamada T. In search of new ideas for global health. N Engl J Med. 2008;358(13):1324-5.
- Esparza J, Yamada T. The discovery value of “Big Science”. J Exp Med. 2007;204(4):701-4.
- Bourgeois FT, Murthy S, Mandl KD. Outcome reporting among drug trials registered in ClinicalTrials.gov. Ann Intern Med. 2010;153(3):158-66.
- LaMattina J. Life After Martin Shkreli: A Conversation With Turing Pharmaceuticals’ R&D Head. Forbes [Internet]. Available from: https://www.forbes.com/sites/johnlamattina/2016/08/24/life-after-martin-shkreli-a-conversation-with-turing-pharmaceuticals-rd-head/ – 4175d82c5216.
- Light DW, Lexchin J. Foreign free riders and the high price of US medicines. BMJ. 2005;331(7522):958-60.
- Light DW, Lexchin JR. Pharmaceutical research and development: what do we get for all that money? BMJ. 2012;345:e4348.
- Gagnon MA, Lexchin J. The cost of pushing pills: a new estimate of pharmaceutical promotion expenditures in the United States. PLoS Med. 2008;5(1):e1.
- Shah RR. Can pharmacogenetics help rescue drugs withdrawn from the market? Pharmacogenomics. 2006;7(6):889-908. Available from: https://www.bio.org/sites/default/files/Clinical%20Development%20Success%20Rates%202006-2015%20-%20BIO,%20Biomedtracker,%20Amplion%202016.pdf
- Godman B, Finlayson AE, Cheema PK, Zebedin-Brandl E, Gutierrez-Ibarluzea I, Jones J, et al. Personalizing health care: feasibility and future implications. BMC Med. 2013;11:179.
- Kaitin KI, Phelan NR, Raiford D, Morris B. Therapeutic ratings and end-of-phase II conferences: initiatives to accelerate the availability of important new drugs. J Clin Pharmacol. 1991;31(1):17-24.
- Tambuyzer E. Rare diseases, orphan drugs and their regulation: questions and misconceptions. Nat Rev Drug Discov. 2010;9(12):921-9. Available from: https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-015-0494-1
- Meekings KN, Williams CS, Arrowsmith JE. Orphan drug development: an economically viable strategy for biopharma R&D. Drug Discov Today. 2012;17(13-14):660-4.
- EvaluatePharma. Orphan Drug Report 2017. EvaluatePharma; 2017.
- Hutchings A, Schey C, Dutton R, Achana F, Antonov K. Estimating the budget impact of orphan drugs in Sweden and France 2013-2020. Orphanet J Rare Dis. 2014;9:22.
- Logviss K, Krievins D, Purvina S. Impact of orphan drugs on Latvian budget. Orphanet J Rare Dis. 2016;11(1):59.
- Maitland I. Priceless goods: how should life-saving drugs be priced? Bus Ethics Q. 2002;12(4):451-80.
- Cutler DM, Rosen AB, Vijan S. The value of medical spending in the United States, 1960-2000. N Engl J Med. 2006;355(9):920-7.
- Boren SD. I had a tough day today, Hillary. N Engl J Med. 1994;330(7):500-2.
- Drummond M, Sorenson C. Can NICE be nicer? In a world of budget constraints there are no easy solutions. Value Health. 2009;12(5):634-6.
- Silverman E. Dear Vice President Pence: Stop peddling false hopes to dying patients. STAT [Internet]. 2017. Available from: https://www.statnews.com/2017/02/20/pence-right-to-try/.
- Readout of the Vice President’s Meeting with Right to Try Advocates [press release]. February 7, 2017 2017.
- Kesselheim AS, Avorn J. New “21st Century Cures” Legislation: Speed and Ease vs Science. JAMA. 2017;317(6):581-2.
- Onakpoya IJ, Spencer EA, Thompson MJ, Heneghan CJ. Effectiveness, safety and costs of orphan drugs: an evidence-based review. BMJ Open. 2015;5(6):e007199.
- Wise PH. Integrity matters: recapturing the relevance of general academic pediatrics. Acad Pediatr. 2011;11(2):123-7.
- Wise PH. Child health policy: where are you when we need you? Acad Pediatr. 2010;10(5):285-6.
- Chu LF, Utengen A, Kadry B, Kucharski SE, Campos H, Crockett J, et al. “Nothing about us without us”-patient partnership in medical conferences. BMJ. 2016;354:i3883.
- MedicineX: About Us [Available from: https://medicinex.stanford.edu/.
- Stevenson DK, Shaw GM, Wise PH, Norton ME, Druzin ML, Valantine HA, et al. Transdisciplinary translational science and the case of preterm birth. J Perinatol. 2013;33(4):251-8.
- Gawande A. The hot spotters: can we lower medical costs by giving the neediest patients better care? New Yorker. 2011:40-51.
- Ireys HT, Anderson GF, Shaffer TJ, Neff JM. Expenditures for care of children with chronic illnesses enrolled in the Washington State Medicaid program, fiscal year 1993. Pediatrics. 1997;100(2 Pt 1):197-204.
- Bogetz JF, Gabhart JM, Rassbach CE, Sanders LM, Mendoza FS, Bergman DA, et al. Outcomes of a randomized controlled educational intervention to train pediatric residents on caring for children with special health care needs. Clin Pediatr (Phila). 2015;54(7):659-66.
- Bavisetty S, Grody WW, Yazdani S. Emergence of pediatric rare diseases: Review of present policies and opportunities for improvement. Rare Dis. 2013;1:e23579.
- Adachi T, Kawamura K, Furusawa Y, Nishizaki Y, Imanishi N, Umehara S, et al. Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey. Eur J Hum Genet. 2017;25(9):1025-8.
- Wise PH. The future pediatrician: the challenge of chronic illness. J Pediatr. 2007;151(5 Suppl):S6-10.
- Topol EJ. The patient will see you now : the future of medicine is in your hands. New York: Basic Books; 2015. 350 pages p.
- Kish LJ, Topol EJ. Unpatients-why patients should own their medical data. Nat Biotechnol. 2015;33(9):921-4.
- Komatireddy R, Topol EJ. Medicine unplugged: the future of laboratory medicine. Clin Chem. 2012;58(12):1644-7.
- Topol EJ. Individualized medicine from prewomb to tomb. Cell. 2014;157(1):241-53.
- Lillie EO, Patay B, Diamant J, Issell B, Topol EJ, Schork NJ. The n-of-1 clinical trial: the ultimate strategy for individualizing medicine? Per Med. 2011;8(2):161-73.
- Loughnot D. Potential interactions of the Orphan Drug Act and pharmacogenomics: a flood of orphan drugs and abuses? Am J Law Med. 2005;31(2-3):365-80.
- Denier Y. Mind the gap! Three approaches to scarcity in health care. Med Health Care Philos. 2008;11(1):73-87.
- Kesselheim A. Interview with Aaron Kesselheim. In: Cahan E, editor. 2017.
- Silver A. Interview with Alex Silver. In: Cahan E, editor. 2016.
- Silver A. Interview with Alex Silver. In: Cahan E, editor. 2017.
- Sarpatwari A. Interview with Ameet Sarpatwari. In: Cahan E, editor. 2017.
- Caplan A. Interview with Art Caplan. In: Cahan E, editor. 2017.
- Steiner B. Interview with Bob Steiner. In: Cahan E, editor. 2017.
- Austin C. Interview with Christopher Austin. In: Cahan E, editor. 2017.
- Dilgen FP. Interview with Faye Purpura Dilgen. In: Cahan E, editor. 2016.
- Frydman G. Interview with Gilles Frydman. In: Cahan E, editor. 2017.
- Tolar J. Interview with Jakub Tolar. In: Cahan E, editor. 2016.
- Tolar J. Interview with Jakub Tolar. In: Cahan E, editor. 2017.
- Dilgen JH. Interview with John Hudson Dilgen in Staten Island. In: Cahan E, editor. 2016.
- LaMattina J. Interview with John LaMattina. In: Cahan E, editor. 2017.
- Hernandez L. Interview with Lara Hernandez. In: Cahan E, editor. 2017.
- CHu L. Interview with Larry Chu. In: Cahan E, editor. 2017.
- Sanders L. Interview with Lee Sanders. In: Cahan E, editor. 2017.
- Haffner M. Interview with Marlene Haffner. In: Cahan E, editor. 2017.
- Summar M. Interview with Marshall Summar. In: Cahan E, editor. 2017.
- Woolley M. Interview with Mary Woolley. In: Cahan E, editor. 2017.
- Silva MD. Interview with Matt De Silva. In: Cahan E, editor. 2017.
- Berg M. Interview with Michelle Berg. In: Cahan E, editor. 2017.
- Morin M. Interview with Mindy Morin. In: Cahan E, editor. 2017.
- Furlong P. Interview with Pat Furlong. In: Cahan E, editor. 2017.
- Adamson P. Interview with Peter Adamson. In: Cahan E, editor. 2017.
- Zeiger R. Interview with Roni Zeiger. In: Cahan E, editor. 2017.
- Groft S. Interview with Stephen Groft. In: Cahan E, editor. 2017.
- Bull S. Interview with Steve Bull. In: Cahan E, editor. 2017.
- Yamada T. Interview with Tachi Yamada. In: Cahan E, editor. 2017.
- Boat T. Interview with Thomas Boat. In: Cahan E, editor. 2017.
- Garnett T. Interview with Tim Garnett. In: Cahan E, editor. 2017.
119. Summar M. Inteview with Marshall Summar. In: Cahan E, editor. 2017.
Originally published: October 10, 2018